A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Purpose: To identify the mutation for Volkmann cataract (CTRCT8) at 1p36.33. Methods: The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNPs) were identified for linkage analysis. Expression analysis with reverse tr...

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Bibliographic Details
Main Authors: Hans Eiberg, Annemette F. Mikkelsen, Mads Bak, Niels Tommerup, Allan M. Lund, Anne Wenzel, Radhakrishnan Sabarinathan, Jan Gorodkin, Claus H. Bang-Berthelsen, Lars Hansen
Format: Article
Language:English
Published: Molecular Vision 2019-01-01
Series:Molecular Vision
Subjects:
cataract
Online Access:http://www.molvis.org/molvis/v25/1/

Internet

http://www.molvis.org/molvis/v25/1/

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